Dystonia Rating Scale Research Articles

Objective, computerized video-based rating of blepharospasm severity.

To compare clinical rating scales of blepharospasm severity with involuntary eye closures measured automatically from patient videos with contemporary facial expression software. We evaluated video recordings of a standardized clinical examination from 50 patients with blepharospasm in the Dystonia Coalition's Natural History and Biorepository study. Eye closures were measured on a frame-by-frame basis with software known as the Computer Expression Recognition Toolbox (CERT). The proportion of eye closure time was compared with 3 commonly used clinical rating scales: the Burke-Fahn-Marsden Dystonia Rating Scale, Global Dystonia Rating Scale, and Jankovic Rating Scale. CERT was reliably able to find the face, and its eye closure measure was correlated with all of the clinical severity ratings (Spearman ρ = 0.56, 0.52, and 0.56 for the Burke-Fahn-Marsden Dystonia Rating Scale, Global Dystonia Rating Scale, and Jankovic Rating Scale, respectively, all p < 0.0001). The results demonstrate that CERT has convergent validity with conventional clinical rating scales and can be used with video recordings to measure blepharospasm symptom severity automatically and objectively. Unlike EMG and kinematics, CERT requires only conventional video recordings and can therefore be more easily adopted for use in the clinic.

Deep Brain Stimulation in Rare Inherited Dystonias.

Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case). The primary outcome was the difference in the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) between baseline, 1 year and last available follow-up. Preoperative factors such as age at surgery, disease duration at surgery, proportion of life lived with dystonia and severity of dystonia were correlated to the primary outcome. Eleven patients were operated between February 2003 and December 2013. Age and duration of disease at time of surgery were 30 ± 19 and 12.5 ± 15.7 years, respectively. DBS effects on dystonia severity were variable but overall marginally effective, with a mean improvement of 7.9% (p = 0.39) at 1-year follow-up and 16.7% (p = 0.46) at last follow-up (mean 47.3 ± 19.9 months after surgery). No preoperative factors were identified to predict the surgical outcome. Our findings support the current knowledge that DBS is modestly effective in treating rare inherited dystonias with a combined phenotype. However, the BFMDRS might not be the best tool to measure outcome in these severely affected patients.

Application of Preoperative CT/MRI Image Fusion in Target Positioning for Deep Brain Stimulation.

<strong>Objective</strong> To explore the efficacy of target positioning by preoperative CT/MRI image fusion technique in deep brain stimulation.<strong>Methods</strong> We retrospectively analyzed the clinical data and images of 79 cases (68 with Parkinson's disease, 11 with dystonia) who received preoperative CT/MRI image fusion in target positioning of subthalamic nucleus in deep brain stimulation. Deviation of implanted electrodes from the target nucleus of each patient were measured. Neurological evaluations of each patient before and after the treatment were performed and compared. Complications of the positioning and treatment were recorded.<strong>Results</strong> The mean deviations of the electrodes implanted on X, Y, and Z axis were 0.5 mm, 0.6 mm, and 0.6 mm, respectively. Postoperative neurologic evaluations scores of unified Parkinson's disease rating scale (UPDRS) for Parkinson's disease and Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) for dystonia patients improved significantly compared to the preoperative scores (P<0.001); Complications occurred in 10.1% (8/79) patients, and main side effects were dysarthria and diplopia.<strong>Conclusion</strong> Target positioning by preoperative CT/MRI image fusion technique in deep brain stimulation has high accuracy and good clinical outcomes.

Long-term results of deep brain stimulation in a cohort of eight children with isolated dystonia.

Pallidal deep brain stimulation (DBS) is an established treatment for patients with severe isolated dystonia. However, clinical evidence for the long-term use of DBS in children is limited and controlled trials have not yet been conducted. Here, we provide the long-term results of up to 13years of pallidal DBS in eight pediatric patients with generalized idiopathic or hereditary isolated dystonia (five males, mean age at surgery 12.5±3.5years), as assessed by retrospective video rating. Video rating was performed at three time points: pre-operative, 1-year short-term follow-up (1y-FU) and long-term last FU (LT-FU, up to 13years). Symptom severity and disability were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Disability scores were obtained from clinical charts and during the last FU. The mean improvement in BFMDRS motor score was 54.4±8.9% at 1y-FU and 42.9±11.6% at LT-FU; the disability scores improved by 59.8±10.3 and 63.3±7.8%, respectively. Electrode dislocation was noted in one patient and implantable pulse generator dislocation in another, both requiring surgical intervention; no further serious adverse events occurred. Our study presents the first blinded video rating assessment of the short- and long-term effects of pallidal DBS in children with idiopathic or hereditary isolated dystonia. Results confirm that pallidal DBS is a safe and efficacious long-term treatment in children, with overall motor improvement similar to that described in controlled trials in adults.

EP 7. The Burke–Fahn–Marsden Dystonia Rating Scale is age-dependent in healthy children

Background The Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS), involving a movement scale (BFMMS) and a disability scale (BFMDS), is a universally applied instrument for quantitative assessment of dystonia in children and adults. However, immature movements by healthy young children may also reveal “dystonic characteristics” as a consequence of physiologically incomplete brain maturation. In young dystonic children, an age-related effect could theoretically confound both the BFMMS and the BFMDS. Objective In healthy young children, we aimed to determine whether physiologically immature movements and postures can induce an age-related effect on BFMMS and BFMDS scores. Methods Nine assessors, specialized in movement disorders (3 adult-, 3 pediatric-neurologists and 3 MD/PhD students) independently scored BFMMS in 52 healthy children (4–16 years; 4 children/year of age; male/female = 1). In another 52 healthy children (4–16 years; 4 children/year of age; male/female = 1), parents scored their children’s functional motor development according to the BFMDS. By regression analysis, we determined the association between BFMMS and BFMDS outcomes and age and compared the regression coefficients using the Z -test. Results In healthy children, assessment of physiologically immature motor performances by the BFMMS and BFMDS revealed an association with age (until 16 and 12 years of age, β = −0.72 and β = −0.60, respectively (both p p = 0.753). Conclusions Both the quantitative BFMMS and the functional BFMDS are influenced by the age of the child in a similar pattern. For accurate interpretation of longitudinal BFMDRS scores in young dystonic children, consideration of pediatric age-relatedness appears advisor

The Burke-Fahn-Marsden Dystonia Rating Scale is Age-Dependent in Healthy Children.

The Burke-Fahn-Marsden Dystonia Rating Scale is a universally applied instrument for the quantitative assessment of dystonia in both children and adults. However, immature movements by healthy young children may also show "dystonic characteristics" as a consequence of physiologically incomplete brain maturation. This could implicate that Burke-Fahn-Marsden scale scores are confounded by pediatric age. In healthy young children, we aimed to determine whether physiologically immature movements and postures can induce an age-related effect on Burke-Fahn-Marsden movement and disability scale scores. Nine assessors specializied in movement disorders (3 adult neurologists, 3 pediatric neurologists, and 3 MD/PhD students) independently scored the Burke-Fahn-Marsden movement scale in 52 healthy children (4-16 years of age; 2 boys and 2 girls per year of age). Independent of that, parents scored their children's functional motor development according to the Burke-Fahn-Marsden disability scale in another 52 healthy children (4-16 years of age; 2 boys and 2 girls per year of age). By regression analysis, we determined the association between Burke-Fahn-Marsden movement and disability scales outcomes and pediatric age. In healthy children, assessment of physiologically immature motor performances by the Burke-Fahn-Marsden movement and disability scales showed an association between the outcomes of both scales and age (until 16 years and 12 years of age, β = -0.72 and β = -0.60, for Burke-Fahn-Marsden movement and disability scale, respectively [both P < 0.001]). The Burke-Fahn-Marsden movement and disability scales are influenced by the age of the child. For accurate interpretation of longitudinal Burke-Fahn-Marsden Dystonia Rating Scale scores in young dystonic children, consideration of pediatric age-relatedness appears advisory.

Deep brain stimulation of the internal globus pallidus for disabling haloperidol-induced tardive dystonia. Report of two cases

AimTardive dystonia (TD) represents a side effect of prolonged intake of neuroleptic drugs. TD can be a disabling movement disorder persisting despite available medical treatment. Deep brain stimulation (DBS) has been reported successful in this condition although the number of treated patients with TD is still limited to small clinical studies or case reports. In this study, we present 2 additional cases of patients after bilateral globus pallidus internus (GPi) stimulation. MethodsThe formal assessment included the Burke–Fahn–Dystonia Rating Scale (BFMDRS). The preoperative and postoperative functional and motor parts of this scale were compared in each patient. The postoperative assessments were done every 6 months. ResultsBoth patients underwent successful bilateral GPi DBS for TD. The postoperative motor score improved by 78% at 24 months in patient 1 and 69% at 12 months in patient 2. There were no surgical or hardware-related complications over follow-up period. ConclusionOur experience indicates that bilateral GPi DBS can be an effective treatment for disabling TD. The response of TD to bilateral GPi DBS is very rapid and occurs within days after the procedure.

Clinical and genetic features of cervical dystonia in a large multicenter cohort

Objective:To characterize the clinical and genetic features of cervical dystonia (CD).Methods:Participants enrolled in the Dystonia Coalition biorepository (NCT01373424) with initial manifestation as CD were included in this study (n = 1,000). Data intake included demographics, family history, and the Global Dystonia Rating Scale. Participants were screened for sequence variants (SVs) in GNAL, THAP1, and Exon 5 of TOR1A.Results:The majority of participants were Caucasian (95%) and female (75%). The mean age at onset and disease duration were 45.5 ± 13.6 and 14.6 ± 11.8 years, respectively. At the time of assessment, 68.5% had involvement limited to the neck, shoulder(s), and proximal arm(s), whereas 47.4% had dystonia limited to the neck. The remaining 31.5% of the individuals exhibited more extensive anatomical spread. A head tremor was noted in 62% of the patients. Head tremor and laryngeal dystonia were more common in females. Psychiatric comorbidities, mainly depression and anxiety, were reported by 32% of the participants and were more common in females. Family histories of dystonia, parkinsonian disorder, and tremor were present in 14%, 11%, and 29% of the patients, respectively. Pathogenic or likely pathogenic SVs in THAP1, TOR1A, and GNAL were identified in 8 participants (0.8%). Two individuals harbored novel missense SVs in Exon 5 of TOR1A. Synonymous and noncoding SVs in THAP1 and GNAL were identified in 4% of the cohort.Conclusions:Head tremor, laryngeal dystonia, and psychiatric comorbidities are more common in female participants with CD. Coding and noncoding variants in GNAL, THAP1, and TOR1A make small contributions to the pathogenesis of CD.

Ranking of Dystonia Severity by Pairwise Video Comparison.

Reviewers of dystonia rating scales agree on the need to assess symptoms more comprehensively. During the development of a quantitative dystonia assessment by video-perceptive computing, we devised a video-based severity ranking as a procedure to create a validation standard without the use of clinical scales. Thirty-four patients with dystonia (17 with dystonic tremor) and 2 controls were assessed with clinical scales and video-recordings of 24 short movement tasks. Two to 4 raters compared multiple permutations of videos from 22 subjects, including 2 healthy controls, until a complete rank order was achieved. Inter-rater agreement was expressed as normalized Kendall tau distance. Spearman correlations of video rank order with clinical scales and self-rating were repeated for tremor/nontremor subgroups. Normalized Kendall tau distances were <0.3 for 15 items. The video rank order for sitting and head movements correlated with clinical scales for the whole group (rho 0.52-0.87) and in the subgroup without tremor. In the tremor subgroup such correlation was perceived in the 2 items involving sitting. Video rank order correlated with quality of life self-rating only in 1 item (arms held in front, palm down). The agreement of video rankings between raters is remarkable. The lack of correlation in the tremor subgroup in several items may be interpreted as tremor being considered in video comparisons but not in clinical scales. This supports video-based ranking as a more comprehensive rating of dystonia and as a possible validation instrument applicable in situations in which no reference standard is available.

Pregnancy in a Series of Dystonia Patients Treated with Deep Brain Stimulation: Outcomes and Management Recommendations

Background: Medically refractory dystonia affects children and young adults, and deep brain stimulation (DBS) can allow some patients to regain functional independence. Women with dystonia treated with DBS may wish to conceive a child, but there is limited published information on pregnancy and DBS. Objective: To describe a series of dystonia patients treated with DBS who later became pregnant and provide guidelines for women treated with DBS considering conception. Methods: We reviewed all dystonia DBS cases implanted at the University of California, San Francisco, and University of Alabama at Birmingham from 1998 to 2015 and identified patients who became pregnant. Patient records were reviewed and structured interviews were conducted. Results: Six dystonia patients were identified [1 currently pregnant and 7 live births (including 1 twin pair)]. Patients (n = 5) with pre- and postoperative BFMDRS (Burke-Fahn-Marsden Dystonia Rating Scale) scores improved by 65.9% after DBS. All pregnancies and deliveries were uncomplicated (the delivery mode was not influenced by the presence of DBS), except for 1 child, who was born premature at 35 weeks' gestation. Stimulation remained on (n = 3) or off (n = 4) during deliveries. DBS neurostimulators did not hinder breastfeeding. Conclusions: In this small sample, pregnancy, delivery, and breastfeeding were safe in dystonia patients treated with DBS. The presence of DBS should not be a contraindication to pregnancy.

Clinimetric testing of the comprehensive cervical dystonia rating scale.

The aim of this study was to test the clinimetric properties of the Comprehensive Cervical Dystonia Rating Scale. This is a modular scale with modifications of the Toronto Western Spasmodic Torticollis Rating Scale (composed of three subscales assessing motor severity, disability, and pain) now referred to as the revised Toronto Western Spasmodic Torticollis Scale-2; a newly developed psychiatric screening instrument; and the Cervical Dystonia Impact Profile-58 as a quality of life measure. Ten dystonia experts rated subjects with cervical dystonia using the comprehensive scale. Clinimetric techniques assessed each module of the scale for reliability, item correlation, and factor structure. There were 208 cervical dystonia patients (73% women; age, 59 ± 10 years; duration, 15 ± 12 years). Internal consistency of the motor severity subscale was acceptable (Cronbach's alpha = 0.57). Item to total correlations showed that elimination of items with low correlations (<0.20) increased alpha to 0.71. Internal consistency estimates for the subscales for disability and pain were 0.88 and 0.95, respectively. The psychiatric screening scale had a Cronbach's alpha of 0.84 and satisfactory item to total correlations. When the subscales of the Toronto Western Spasmodic Torticollis Scale-2 were combined with the psychiatric screening scale, Cronbach's alpha was 0.88, and construct validity assessment demonstrated four rational factors: motor; disability; pain; and psychiatric disorders. The Cervical Dystonia Impact Profile-58 had an alpha of 0.98 and its construction was validated through a confirmatory factor analysis. The modules of the Comprehensive Cervical Dystonia Rating Scale are internally consistent with a logical factor structure.

Differences in globus pallidus neuronal firing rates and patterns relate to different disease biology in children with dystonia

BackgroundThe pathophysiology underlying different types of dystonia is not yet understood. We report microelectrode data from the globus pallidus interna (GPi) and globus pallidus externa (GPe) in children undergoing deep...

Dystonia in Machado–Joseph disease: Clinical profile, therapy and anatomical basis

IntroductionDystonia is frequent in Machado–Joseph disease, but several important aspects are not yet defined, such as the detailed clinical profile, response to treatment and anatomical substrate. MethodsWe screened 75 consecutive patients and identified those with dystonia. The Burke-Marsden-Fahn Dystonia Rating Scale was employed to quantify dystonia severity. Patients with dystonia received levodopa 600 mg/day for 2 months and were videotaped before and after treatment. A blinded evaluator rated dystonia in the videos. Patients with disabling dystonia who failed to respond to levodopa treatment received botulinum toxin. Finally, volumetric T1 and diffusion tensor imaging sequences were obtained in the dystonic group using a 3T-MRI scanner to identify areas of gray and white matter that were selectively damaged. ResultsThere were 21 patients with dystonia (28%): 9 classified as generalized and 12 as focal/segmental. Patients with dystonia had earlier onset and larger (CAG) expansions (28.9 ± 11.7 vs 40.6 ± 11.4; p < 0.001 and 75 vs 70; p < 0.001, respectively). Although group analyses failed to show benefit on levodopa (p = 0.07), some patients had objective improvement. In addition, ten patients received botulinum toxin resulting in a significant change in dystonia scores after 4 weeks (p = 0.03). Patients with dystonia had atrophy at pre- and paracentral cortices; whereas, non-dystonic patients had occipital atrophy. Basal ganglia volume was reduced in both groups, but atrophy at the thalami, cerebellar white matter and ventral diencephali was disproportionately higher in the dystonic group. ConclusionDystonia in Machado–Joseph disease is frequent and often disabling, but may respond to levodopa. It is associated predominantly with structural abnormalities around the motor cortices and in the thalami.

Long-term follow-up study on deep brain stimulation for post-traumatic dystonia

Background Deep brain stimulation (DBS) offers a very promising therapy for medically intractable dystonia. Among different dystonia subtypes, the surgical outcome of primary dystonia is most convincing, while that of post-traumatic dystonia is uncertain. This paper aims to evaluate the effect of DBS on post-traumatic dystonia. Methods Four patients of post-traumatic dystonia treated with DBS on globus pallidus internus (GPi) or subthalamic nucleus (STN) were reviewed and their surgical effect was evaluated. Outcome assessments were based on Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) movement and disability scores preoperatively and one month, 6 months, one year and 2 years after surgery. Improvement rate was counted to evaluate the curative effect. Results BFMDRS movement scores were improved by 38.35%, 47.28%, 62.74% and 68.69% respectively, and disability scores were improved by 35.36% , 46.83% , 59.60% and 67.01% respectively. Imaging features of these patients were reviewed. Although the location and size of encephalomalacia differed among these patients, the anatomical features of basal ganglia remained intact. Conclusions With strict selection, DBS may be a promising treatment to ameliorate the symptoms of post-traumatic dystonia. The surgical effect may be sustainable in long term. Anatomical integrity of basal ganglia may be an important factor to predict good outcome. DOI: 10.3969/j.issn.1672-6731.2015.10.006

Deep brain stimulation and neuromodulation for torsion dystonia

Objective To discuss the curative effect and safety of deep brain stimulation (DBS) and neuromodulation in the treatment of patients with torsion dystonia. Methods Ten patients with torsion dystonia underwent subthalamic nucleus DBS (STN-DBS) and 3 patients with torsion dystonia underwent globus pallidus internus DBS (GPi-DBS). Regulate the stimulus parameters, evaluate the improvement of torsion dystonia by using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and record related adverse events. Results Among the 13 patients, 6 patients were improved by over 60% in 1-3 d and 3 patients one week after stimulation, and the improvement rate was > 75% in 6 months and > 85% in one year. Two patients showed improvement 2 months after stimulation, and the improvement rate was > 60% in 6 months and > 80% in one year. One patient showed slight improvement immediately after operation, and the improvement rate increased to 45% in 6 months and 75% in one year. One patient removed the stimulator. No adverse event related to the operation was found in all 13 patients. The stimulus parameters for STN-DBS were voltage 1.50-2.00 V, frequency 130-145 Hz, pulse width 60-90 μs at 6 months postoperatively, and were voltage 2.00-2.50 V, frequency 130-150 Hz, pulse width 60-90 μs at one year postoperatively. The stimulus parameters for GPi-DBS were voltage 2.50-2.80 V, frequency 130-160 Hz, pulse width 60-90 μs at 6 months postoperatively, and were voltage 2.50-4.00 V, frequency 145-170 Hz, pulse width 60-90 μs at one year postoperatively. Conclusions Both STN-DBS and GPi-DBS have good curative effect and safety in the treatment for torsion dystonia. Besides, patients should be treated with individual neuromodulation. DOI: 10.3969/j.issn.1672-6731.2015.10.007

Deep Brain Stimulation in a Case of Mitochondrial Disease.

DBS has proven to be an effective therapy for Parkinson's disease, essential tremor, and primary dystonia. Mixed results have been reported in case series for other hyperkinetic disorders, and sparse data are available regarding secondary movement disorders. We report on the clinical effects of bilateral globus pallidus internus (GPi) DBS, a progressive mitochondrial cytopathy. A single patient with myoclonus and dystonia syndrome secondary to a mitochondrial cytopathy with history of perinatal hypoxia was identified from our University of Florida DBS database. Demographics, clinical, surgical, and DBS data were documented. At 6 months post-DBS, we observed a 32% (361 to 527) improvement on quality of life (36-item Medical Outcome Study Short-Form Health Survey; SF-36). Objective clinical scales revealed a 33% (143 to 96) improvement in the Unified Myoclonus Rating Scale (UMRS) total score. The UMRS action myoclonus subsection revealed a 29% (69 to 46) improvement. No significant changes were observed in the Burke-Fahn-Mardsen Dystonia Rating Scale (BFMDRS). After 1-year follow-up, a worsening of 59% (527 to 215) was observed in the SF-36 scale, of 19% (28.5 to 35) in the BFMDRS, and of 23% (96 to 124) in the UMRS. However, the frequency and intensity of action myoclonus scores remained lower when compared to baseline scores. Although we observed a loss of benefit in the long term for most quality-of-life and clinical outcomes, the DBS effects on action myoclonus seemed to remain stable. Longer follow-up studies are necessary to confirm our short-term and unblinded findings.

A prospective, randomized, blinded assessment of multitarget thalamic and pallidal deep brain stimulation in a case of hemidystonia

ObjectiveDystonia is increasingly being interpreted as a multi-nodal “network” disorder. We aimed to investigate multitarget DBS (pallidal and thalamic) versus each target alone in a prospective, randomized, blinded trial in a case of hemidystonia secondary to putaminal stroke. MethodsDBS leads were implanted in the GPi and Vim/Vop and each stimulation combination (GPi, Vim/Vop, and both) was tested for three months in a single patient. Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS) and Short-Form 36 (SF-36) were completed at the end of each trial period. ResultsMultitarget (GPi+Vim/Vop) stimulation was clinically the most effective treatment and resulted in the most improvement in function and quality of life. The patient's hemidystonia improved by 25% as measured by the BFMDRS during the multitarget stimulation trial period and at the 6-month follow-up. The patient's quality of life improved by 86% and 59% during the multitarget stimulation trial period and at the 6 month follow-up respectively. ConclusionMultitarget thalamic and pallidal DBS proved to be the most effective therapy for this patient with secondary hemidystonia due to a putaminal stroke. A single-lead approach may not be sufficient in neuromodulating a highly disorganized motor network seen in hemidystonia. Multitarget DBS should be further explored in post-stroke dystonia and may offer improved outcome in other forms of secondary dystonia with limited response to GPi DBS.

Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity

Neuroferritinopathy is an autosomal dominant adult-onset movement disorder which occurs due to mutations in the ferritin light chain gene (FTL). Extensive iron deposition and cavitation are observed post-mortem in the basal ganglia, but whether more widespread pathological changes occur, and whether they correlate with disease severity is unknown. 3D-T1w and quantitative T2 whole brain MRI scans were performed in 10 clinically symptomatic patients with the 460InsA FTL mutation and 10 age-matched controls. Voxel-based morphometry (VBM) and voxel-based relaxometry (VBR) were subsequently performed. Clinical assessment using the Unified Dystonia Rating Scale (UDRS) and Unified Huntington's Disease Rating Scale (UHDRS) was undertaken in all patients. VBM detected significant tissue changes within the substantia nigra, midbrain and dentate together with significant cerebellar atrophy in patients (FWE, p < 0.05). Iron deposition in the caudate head and cavitation in the lateral globus pallidus correlated with UDRS score (p < 0.001). There were no differences between groups with VBR. Our data show that progressive iron accumulation in the caudate nucleus, and cavitation of the globus pallidus correlate with disease severity in neuroferritinopathy. We also confirm sub-clinical cerebellar atrophy as a feature of the disease. We suggest that VBM is an effective technique to detect regions of iron deposition and cavitation, with potential wider utility to determine radiological markers of disease severity for all NBIA disorders.

Deep anterior cerebellar stimulation reduces symptoms of secondary dystonia in patients with cerebral palsy treated due to spasticity

IntroductionDeep anterior cerebellar stimulation (DACS) is a neuromodulation therapy of spasticity. Bilateral DACS is applied in young patients with cerebral palsy (CP). In these patients symptoms of spasticity coexist with symptoms of focal or segmental dystonia, which can cause chronic pain. We performed the study to investigate the therapeutic effects of DACS in spasticity, secondary dystonia and pain. MethodsWe examined 10 from 13 patients with CP treated with DACS due to spasticity in years 2006–2012. We compared Ashworth scores of spasticity, VAS scale of pain and UDRS (Unified Dystonia Rating Scale) score before DACS and after it in follow-up lasting from 2 to 11 years it in these patients basing on clinical examination and evaluating forms given by the patients or parents. ResultsWe received statistically significant reduction of spasticity in upper extremities (median: from 3 to 1,5 in Ashworth scale) in 8 patients (p=0,01), in lower extremities in 7 patients (median: from 3 to 1,75) (p=0,02). Symptoms of focal dystonia were reduced. Total score for the UDRS (median=18,0 before surgery) after DACS decreased significantly (median=10,3) (p=0,043). Change in consecutive parts of UDRS before (median=1,6) and after (median=1,0) surgery in 7 patients had statistical significance (p=0,0179). There were not significant changes in intensity of pain before and after surgery (p=0,108). DiscussionChronic bilateral DACS aimed for spasticity treatment not only decreases muscular tone in quadriplegic or paraplegic patients with CP but also is associated with reduction of symptoms of focal or segmental, secondary dystonia.

PP12.2 – 2296: The Burke-Fahn-Marsden movement scale is age-dependent in healthy children

Objective To investigate the Burke-Fahn-Marsden Movement Scale (BFMMS) for the influence of age and for the reliability of the scores. Methods Nine movement disorder specialists from different backgrounds (3 paediatric neurologists, 3 movement disorder-research students and 3 adult neurologists) cross-sectionally scored the BFMMS independently in 52 healthy children (4–16 years; m:f = 1). We associated outcomes with age with multivariate regression analysis and we additionally investigated the reliability of the scale by calculating the Intraclass Correlation Coefficients (ICC's) of inter- and intra-observer agreement and test-retest reliability. Results In healthy children, total BFMMS scores were significantly predicted by age (β=–0.71; p Conclusion In healthy children, BFMMS is age-dependent, at least until 16 years of age. For reliable interpretation and longitudinal surveillance of quantitative dystonia rating scales in children, international paediatric normal values are needed, first.